Narcolepsy with cataplexy mimicry: The strange case of two sisters

Fabio Pizza, Stefano Vandi, Francesca Poli, Keivan Kaveh Moghadam, Christian Franceschini, Claudia Bellucci, Carlo Cipolli, Francesca Ingravallo, Giuliana Natalini, Emmanuel Mignot, Giuseppe Plazzi

Research output: Contribution to journalArticlepeer-review

Abstract

We report on two sisters, 17 and 12 years of age, with clinical features suggesting narcolepsy with cataplexy (NC): daytime sleepiness, spontaneous and emotionally triggered sudden falls to the ground, and overweight/obesity. MSLT showed borderline sleep latency, with 1 and 0 sleep onset REM periods. HLA typing disclosed the DQB1*0602 allele. Video-polygraphy of the spells ruled out NC diagnosis by demonstrating their easy elicitation by suggestion, with wake EEG, electromyographic persistence of muscle tone, and stable presence of tendon reflexes (i.e., pseudo-cataplexy), together with normal cerebrospinal hypocretin-1 levels. Our cases emphasize the need of a clear depiction of cataplexy pattern at the different ages, the usefulness of examining ictal neurophysiology, and collecting all available disease markers in ambiguous cases.

Original languageEnglish
Pages (from-to)611-612
Number of pages2
JournalJournal of Clinical Sleep Medicine
Volume9
Issue number6
DOIs
Publication statusPublished - Jun 15 2013

Keywords

  • Childhood
  • Hypocretin-1
  • Narcolepsy with cataplexy
  • Pseudo cataplexy
  • Video polysomnography

ASJC Scopus subject areas

  • Clinical Neurology
  • Pulmonary and Respiratory Medicine
  • Neurology

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